Document Detail

Antenatally diagnosed thanatophoric dysplasia.
MedLine Citation:
PMID:  6763446     Owner:  NLM     Status:  MEDLINE    
A case of antenatally diagnosed thanatophoric dysplasia is described. Other syndromes accompanied by chondrodysplastic tetramicromelia were excluded and diagnosis was based on the narrow thorax, secondary pulmonary hypoplasia and macrocephaly detected by ultrasound and on radiological findings of disturbed bone formation. At the mother's request labour was induced and radiological, anatomic and histological examination of the newborn confirmed the prenatal diagnosis. On basis of the literature, the possible aetiology of the disease is discussed and autosomal recessive heredity is suggested. Attention is focussed on the significant hydramnios which led to the suspicion of fetal malformation. The importance in pregnancy of routine ultrasound screening is emphasized, since such malformations can be detected as early as in midtrimester pregnancy.
Z Tóth; J Vachter; G Szeifert; Z Nemes; K Csécsei; O Török; A Harsányi; Z Papp
Related Documents :
22651916 - Hla-g polymorphisms and soluble hla-g protein levels in women with recurrent pregnancy ...
2189526 - Ultrasound evaluation of ectopic pregnancy including correlation with human chorionic g...
17252526 - Sonographic assessment of normal fetal palate using three-dimensional imaging: a new te...
6197706 - Prenatal diagnosis of conjoined twins.
23356686 - Echogenicity changes in the fetal brain, a six year follow-up study.
17182666 - Prospective cross-validation of three methods of predicting failing pregnancies of unkn...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta paediatrica Academiae Scientiarum Hungaricae     Volume:  23     ISSN:  0001-6527     ISO Abbreviation:  Acta Paediatr Acad Sci Hung     Publication Date:  1982  
Date Detail:
Created Date:  1983-06-10     Completed Date:  1983-06-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372634     Medline TA:  Acta Paediatr Acad Sci Hung     Country:  HUNGARY    
Other Details:
Languages:  eng     Pagination:  423-30     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / diagnosis
Dwarfism / diagnosis*
Infant, Newborn
Limb Deformities, Congenital
Polyhydramnios / diagnosis
Prenatal Diagnosis / methods*
Thorax / abnormalities

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Post-operative thickness and endothelial cell density in cultivated, cryopreserved human corneal gra...
Next Document:  Frequent occurrence of anti-rabbit IgM in IgA deficiency.